与胰岛素依赖型糖尿病相关的DQB1*0302阳性单倍型中的HLA-DR4亚型和-B等位基因。芬兰儿童糖尿病研究小组。

HLA-DR4 subtype and -B alleles in DQB1*0302-positive haplotypes associated with IDDM. The Childhood Diabetes in Finland Study Group.

作者信息

Reijonen H, Nejentsev S, Tuokko J, Koskinen S, Tuomilehto-Wolf E, Akerblom H K, Ilonen J

机构信息

Turku Immunology Centre, University of Turku, Finland.

出版信息

Eur J Immunogenet. 1997 Oct;24(5):357-63. doi: 10.1046/j.1365-2370.1997.d01-108.x.

DOI:10.1046/j.1365-2370.1997.d01-108.x

PMID:9442803

Abstract

We determined the distribution of DR4 subtypes in 309 DQB10302-positive haplotypes found in insulin-dependent diabetes mellitus (IDDM) patients and 70 control haplotypes present only in healthy family members. An increased frequency of DRB10401 allele (74.4% vs. 55.7%, P = 0.003) and a decrease of DRB10404 allele (23.6% vs. 40.0%, P = 0.0064) was revealed. A further analysis of extended haplotypes demonstrated strong linkages between various B alleles and DRB104 subtypes. HLA-B39 was more frequent in DRB10404-DQB10302-positive IDDM haplotypes compared with control ones (37.0% vs. 14.3%, P = 0.049), suggesting an involvement of the region telomeric to HLA-DRB1 in the susceptibility to IDDM.

摘要

我们确定了在胰岛素依赖型糖尿病（IDDM）患者中发现的309种DQB10302阳性单倍型以及仅存在于健康家庭成员中的70种对照单倍型中DR4亚型的分布情况。结果显示，DRB10401等位基因频率增加（74.4%对55.7%，P = 0.003），而DRB10404等位基因频率降低（23.6%对40.0%，P = 0.0064）。对扩展单倍型的进一步分析表明，各种B等位基因与DRB104亚型之间存在强连锁关系。与对照单倍型相比，HLA - B39在DRB10404 - DQB10302阳性IDDM单倍型中更为常见（37.0%对14.3%，P = 0.049），这表明HLA - DRB1端粒区域参与了IDDM的易感性。